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[McArdle's disease. Apropos of a case]
J R Yuste1, O Beloqui, A De la Peña
1Departamento de Medicina Interna, Facultad de Medicina, Universidad de Navarra.
Revista De Medicina De La Universidad De Navarra
|July 27, 1999
Abstract:
McArdle's disease (glycogenosis type V) is a metabolic disorder of hydrocarbons, inherited with autosomic recessive pattern. Biochemically is defined by a myophosphorylase deficiency; clinically it is characterized by exercise intolerance, due to the impossibility of providing energetic substrate to the muscle, myalgias and stiffness. We present a case report of a patient with McArdle's disease and we comment the diagnostic procedures and current therapeutic options.